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相关概念视频

Histone Variants at the Centromere02:30

Histone Variants at the Centromere

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Termination of Translation01:44

Termination of Translation

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The large ribosomal subunit has several important structures essential to translation. These include the peptidyl transferase center (PTC) - which is the site where the peptide bond is formed - and a large, internal, water-filled tube through which the nascent polypeptide moves. This latter structure is called the Peptide Exit Tunnel, and it begins at the PTC and spans the body of the large ribosomal subunit. During translation, as the nascent polypeptide chain is synthesized, it passes through...
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Termination of Translation01:44

Termination of Translation

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Line Loss01:10

Line Loss

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The different configurations of source-load connections include wye (star) and delta connections. The relationship between line and phase voltages and currents varies depending on the configuration. When the source is supplying power, it is transmitted through the wires to the load, and during this transmission, some power is absorbed by the wires, leading to line loss.
Line loss impacts power delivery efficiency in a balanced three-phase circuit. The symmetry in such a circuit simplifies the...
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Predicting Molecular Geometry02:27

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VSEPR Theory for Determination of Electron Pair Geometries
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Reducing Line Loss01:18

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In a three-phase circuit, line loss is an indicator of energy dissipated as heat due to the resistance of transmission lines. To address this, incorporating transformers into the system—a step-up transformer at the source and a step-down transformer at the load—is a strategic solution. Two three-phase transformers are introduced to improve this.
With a step-up transformer at the source, the voltage is increased, thereby reducing the current in the transmission lines since power loss in...
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相关实验视频

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Development of a Gaze-Contingent Display Framework Designed for Perceptual and Oculomotor Research with Simulated Central Vision Loss
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对于具有C端扩展的止损变体的预测框架.

Jihoon G Yoon1,2, Sojin Lee1,2, Yoonjung Kim1,2

  • 1Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.

Nucleic acids research
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概括
此摘要是机器生成的。

止损变体导致C端蛋白延伸. 我们的新工具TAILVAR准确地预测了它们的功能影响,有助于基因诊断和基因发现.

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科学领域:

  • 基因组学就是基因组学.
  • 分子生物学分子生物学
  • 生物信息学是一种生物信息学.

背景情况:

  • 停止编码子通常会终止蛋白质合成.
  • 止损变体导致C端延伸,改变蛋白质功能.
  • 现有的工具很难预测这些扩展蛋白质的影响.

研究的目的:

  • 开发一种新的机器学习分类器,TAILVAR,用于预测止损变体的功能后果.
  • 整合多omics数据,以提高预测准确度.
  • 为解释遗传诊断中停止损失变异效应提供一个框架.

主要方法:

  • 开发了一种机器学习分类器TAILVAR.
  • 集成的转录和蛋白质水平特征,以及变异效应注释.
  • 分析了扩展的进化约束和生物物理特性 (疏水性,聚合性).

主要成果:

  • 没有下游停止编码子的转录显示了较低的进化约束.
  • 有害变异与增加的C端疏水性,降低的稳定性和更高的聚合相关.
  • 泰尔瓦超越了现有的方法,与功能实验有很高的相关性.
  • 泰尔瓦可靠地区分良性和病原性变体,主要是通过功能丧失.

结论:

  • 泰尔瓦尔为解释止损变量提供了一个系统的框架.
  • 精确预测延长蛋白质效应有助于遗传诊断.
  • 这种方法可能有助于发现新型疾病相关基因.